Chen, 2015: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
22
|
No
|
Chorea
Motor delay Cerebellar signs Dysarthria -Motor Paroxysmal dyskinesia Facial twitches Dyskinesia Axial hypotonia Myoclonus Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
9
|
No
|
Myoclonus
Dysarthria Gait impairment Dyskinesia Axial hypotonia Motor delay Seizures Hyperreflexia -Motor Delayed gross motor development Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
5
|
42
|
Yes
|
-Motor
Dyskinesia Chorea Tremor (any or unspecified) Postural tremor Trigger: Anxiety Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
No
|
Myoclonus
Dysarthria Chorea Cerebellar signs Facial twitches -Motor Dyskinesia Axial hypotonia Hyperreflexia Cognitive impairment Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
29
|
No
|
n.a.
|
||
No
|
♀
|
C
|
USA
|
3
|
71
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
8
|
Yes
|
Muscular hypotonia
Dyskinesia Motor delay Dystonia, limb Dystonia, axial Axial hypotonia -Motor Gait impairment Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
68
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
13
|
No
|
n.a.
|